Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome

Orpha code: 1875OMIM code: 254000

Definicja

Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome is characterized by congenital muscular dystrophy, infantile cataract and hypogonadism. It has been described in seven individuals from an isolated Norwegian village and in one unrelated individual. Transmission appears to be autosomal recessive.

Disease data
Klasyfikacja

Disease

Synonimy
Bassoe syndrome
Zespół Bassoe
Kod ORPHA
1875
Kod OMIM
254000
Kod ICD10
G71.0
Kod ICD11
8C70.6

No additional description.

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